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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Cornelia de Lange syndrome 1
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Accession:DOID:0080505 term browser browse the term
Definition:A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. (DO)
Synonyms:exact_synonym: CDLS1;   NIPBL-RELATED CONDITION
 primary_id: MIM:122470


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Cornelia de Lange syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:25741868 NCBI chr17:32,415,246...32,503,717
Ensembl chr17:32,415,248...32,503,696 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:19052029 PMID:24689074 PMID:28492532 PMID:36093091 NCBI chr15:8,198,509...8,300,642
Ensembl chr15:8,198,590...8,300,642 		JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:25741868 PMID:26671848 PMID:30158690 NCBI chr  X:101,328,244...101,549,005
Ensembl chr  X:101,328,245...101,548,965 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:25574841 NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Nipbl NIPBL cohesin loading factor ISO
IAGP		 OMIM:122470
ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 | ClinVar Annotator: match by term: NIPBL-related condition		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:11391654 PMID:15146185 PMID:15146186 PMID:15318302 More... NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947 		JBrowse link
G Nup155 nucleoporin 155 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:28492532 NCBI chr15:8,135,861...8,189,343
Ensembl chr15:8,138,757...8,190,731 		JBrowse link
G Slc1a3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:19052029 PMID:28492532 NCBI chr15:8,663,608...8,742,648
Ensembl chr15:8,663,608...8,740,248 		JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:28492532 NCBI chr  X:150,799,386...150,844,969
Ensembl chr  X:150,799,424...150,845,690 		JBrowse link
G Smc3 structural maintenance of chromosomes 3 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar NCBI chr19:53,588,827...53,634,262
Ensembl chr19:53,588,829...53,634,264 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 ClinVar PMID:25574841 NCBI chr 5:138,176,879...138,185,713
Ensembl chr 5:138,176,879...138,185,713 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16226
    syndrome 10770
      Cornelia de Lange syndrome 47
        Cornelia de Lange syndrome 1 10
Path 2
Term Annotations click to browse term
  disease 16226
    disease of anatomical entity 15845
      nervous system disease 13766
        central nervous system disease 12285
          brain disease 11536
            disease of mental health 8313
              developmental disorder of mental health 5687
                specific developmental disorder 4626
                  intellectual disability 4423
                    Cornelia de Lange syndrome 47
                      Cornelia de Lange syndrome 1 10
paths to the root